NCALD (neurocalcin delta) - Rat Genome Database

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Gene: NCALD (neurocalcin delta) Homo sapiens
Analyze
Symbol: NCALD
Name: neurocalcin delta
RGD ID: 1348281
HGNC Page HGNC
Description: Exhibits actin binding activity; clathrin binding activity; and tubulin binding activity. Predicted to be involved in calcium-mediated signaling and regulation of systemic arterial blood pressure. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MGC33870; MGC74858; neurocalcin-delta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8101,686,542 - 102,124,907 (-)EnsemblGRCh38hg38GRCh38
GRCh388101,686,542 - 102,124,907 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378102,698,770 - 103,137,135 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368102,767,946 - 103,206,311 (-)NCBINCBI36hg18NCBI36
Build 348102,768,135 - 102,872,363NCBI
Celera898,883,681 - 99,322,037 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef897,897,521 - 98,335,560 (-)NCBIHuRef
CHM1_18102,739,049 - 103,177,412 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-methoxyethanol  (ISO)
2-methylcholine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
asbestos  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium sulfate  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
cocaine  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
kojic acid  (EXP)
L-ascorbic acid  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
Soman  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:7852401   PMID:8619474   PMID:8889548   PMID:9110174   PMID:11076863   PMID:11115393   PMID:11230166   PMID:11256614   PMID:11267673   PMID:11836243   PMID:11964161   PMID:12477932  
PMID:14702039   PMID:15489334   PMID:15489336   PMID:16189514   PMID:16344560   PMID:16381901   PMID:17671797   PMID:18500817   PMID:19342380   PMID:20125193   PMID:20379614   PMID:21516116  
PMID:21876539   PMID:23156397   PMID:23349634   PMID:23376485   PMID:24939585   PMID:25416956   PMID:25519916   PMID:26186194   PMID:28132687   PMID:28514442   PMID:30076541   PMID:30097533  
PMID:31109331   PMID:32228639   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
NCALD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8101,686,542 - 102,124,907 (-)EnsemblGRCh38hg38GRCh38
GRCh388101,686,542 - 102,124,907 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378102,698,770 - 103,137,135 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368102,767,946 - 103,206,311 (-)NCBINCBI36hg18NCBI36
Build 348102,768,135 - 102,872,363NCBI
Celera898,883,681 - 99,322,037 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef897,897,521 - 98,335,560 (-)NCBIHuRef
CHM1_18102,739,049 - 103,177,412 (-)NCBICHM1_1
Ncald
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391537,366,419 - 37,792,816 (-)NCBIGRCm39mm39
GRCm39 Ensembl1537,366,419 - 37,792,814 (-)Ensembl
GRCm381537,366,175 - 37,792,519 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1537,366,175 - 37,792,570 (-)EnsemblGRCm38mm10GRCm38
MGSCv371537,295,930 - 37,722,183 (-)NCBIGRCm37mm9NCBIm37
MGSCv361537,310,764 - 37,736,996 (-)NCBImm8
Celera1537,985,866 - 38,409,233 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1514.94NCBI
Ncald
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2768,532,671 - 68,964,740 (-)NCBI
Rnor_6.0 Ensembl776,199,306 - 76,488,216 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0776,199,305 - 76,632,847 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0776,320,073 - 76,747,866 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4772,875,314 - 72,976,373 (-)NCBIRGSC3.4rn4RGSC3.4
Celera765,599,587 - 65,694,343 (-)NCBICelera
Cytogenetic Map7q22NCBI
Ncald
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541726,535,859 - 26,563,301 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541726,535,859 - 26,885,944 (-)NCBIChiLan1.0ChiLan1.0
NCALD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18100,488,400 - 100,931,079 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8100,488,400 - 100,520,842 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0898,324,885 - 98,767,804 (-)NCBIMhudiblu_PPA_v0panPan3
NCALD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1133,367,036 - 3,678,505 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl133,369,570 - 3,512,566 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha133,366,895 - 3,737,167 (-)NCBI
ROS_Cfam_1.0133,524,683 - 3,895,032 (-)NCBI
UMICH_Zoey_3.1133,367,969 - 3,738,210 (-)NCBI
UNSW_CanFamBas_1.0133,480,588 - 3,850,984 (-)NCBI
UU_Cfam_GSD_1.0133,497,712 - 3,868,004 (-)NCBI
Ncald
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530334,035,139 - 34,426,252 (+)NCBI
SpeTri2.0NW_00493647041,573,238 - 41,852,349 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NCALD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl434,924,383 - 35,367,430 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1434,924,261 - 35,369,393 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2437,798,498 - 38,264,852 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NCALD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1896,530,414 - 96,735,422 (-)NCBI
ChlSab1.1 Ensembl896,530,302 - 96,644,281 (-)Ensembl
Ncald
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476318,918,781 - 19,191,221 (-)NCBI

Position Markers
D8S1046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,066,822 - 103,067,174UniSTSGRCh37
Celera899,251,735 - 99,252,087UniSTS
Cytogenetic Map8q22.2UniSTS
HuRef898,265,313 - 98,265,665UniSTS
Marshfield Genetic Map8117.62UniSTS
Marshfield Genetic Map8117.62RGD
RH18432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,009,746 - 103,009,878UniSTSGRCh37
Build 368103,078,922 - 103,079,054RGDNCBI36
Celera899,194,642 - 99,194,774RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,208,234 - 98,208,366UniSTS
GeneMap99-GB4 RH Map8440.32UniSTS
WI-15914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,700,817 - 102,700,947UniSTSGRCh37
Build 368102,769,993 - 102,770,123RGDNCBI36
Celera898,885,728 - 98,885,858RGD
Cytogenetic Map8q22.2UniSTS
HuRef897,899,568 - 97,899,698UniSTS
GeneMap99-GB4 RH Map8437.86UniSTS
Whitehead-RH Map8567.4UniSTS
G32174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,033,699 - 103,033,907UniSTSGRCh37
Build 368103,102,875 - 103,103,083RGDNCBI36
Celera899,218,597 - 99,218,805RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,232,177 - 98,232,385UniSTS
SGC32324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,074,179 - 103,074,279UniSTSGRCh37
Build 368103,143,355 - 103,143,455RGDNCBI36
Celera899,259,092 - 99,259,192RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,272,676 - 98,272,776UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
Whitehead-RH Map8584.3UniSTS
NCBI RH Map81079.9UniSTS
RH103679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,215,726 - 26,215,826UniSTSGRCh37
Build 36626,323,705 - 26,323,805RGDNCBI36
Celera627,445,029 - 27,445,129RGD
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef626,158,726 - 26,158,826UniSTS
GeneMap99-GB4 RH Map6105.76UniSTS
RH120545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,721,709 - 102,721,983UniSTSGRCh37
Build 368102,790,885 - 102,791,159RGDNCBI36
Celera898,906,622 - 98,906,896RGD
Cytogenetic Map8q22.2UniSTS
HuRef897,920,446 - 97,920,720UniSTS
TNG Radiation Hybrid Map850159.0UniSTS
SHGC-147184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,069,795 - 103,070,085UniSTSGRCh37
Build 368103,138,971 - 103,139,261RGDNCBI36
Celera899,254,708 - 99,254,998RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,268,292 - 98,268,582UniSTS
TNG Radiation Hybrid Map850329.0UniSTS
SHGC-147319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,129,505 - 103,129,787UniSTSGRCh37
Build 368103,198,681 - 103,198,963RGDNCBI36
Celera899,314,406 - 99,314,688RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,327,972 - 98,328,254UniSTS
TNG Radiation Hybrid Map850352.0UniSTS
SHGC-32239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,011,151 - 103,011,300UniSTSGRCh37
Build 368103,080,327 - 103,080,476RGDNCBI36
Celera899,196,047 - 99,196,196RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,209,639 - 98,209,788UniSTS
GeneMap99-GB4 RH Map8439.92UniSTS
Whitehead-RH Map8572.0UniSTS
GeneMap99-G3 RH Map83630.0UniSTS
SHGC-4220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,842,824 - 102,842,957UniSTSGRCh37
Build 368102,912,000 - 102,912,133RGDNCBI36
Celera899,027,721 - 99,027,854RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,041,408 - 98,041,541UniSTS
D8S361E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,699,915 - 102,700,086UniSTSGRCh37
Build 368102,769,091 - 102,769,262RGDNCBI36
Celera898,884,826 - 98,884,997RGD
Cytogenetic Map8q22.2UniSTS
HuRef897,898,666 - 97,898,837UniSTS
186XB2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,776,146 - 102,776,265UniSTSGRCh37
Build 368102,845,322 - 102,845,441RGDNCBI36
Celera898,961,043 - 98,961,160RGD
Cytogenetic Map8q22.2UniSTS
HuRef897,974,870 - 97,974,985UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH12039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,011,093 - 103,011,271UniSTSGRCh37
Build 368103,080,269 - 103,080,447RGDNCBI36
Celera899,195,989 - 99,196,167RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,209,581 - 98,209,759UniSTS
GeneMap99-GB4 RH Map8439.42UniSTS
G20502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,074,172 - 103,074,330UniSTSGRCh37
Build 368103,143,348 - 103,143,506RGDNCBI36
Celera899,259,085 - 99,259,243RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,272,669 - 98,272,827UniSTS
A005U11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,074,172 - 103,074,330UniSTSGRCh37
Build 368103,143,348 - 103,143,506RGDNCBI36
Celera899,259,085 - 99,259,243RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,272,669 - 98,272,827UniSTS
GeneMap99-GB4 RH Map8439.42UniSTS
NCBI RH Map81107.9UniSTS
A002C26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,699,091 - 102,699,277UniSTSGRCh37
Build 368102,768,267 - 102,768,453RGDNCBI36
Celera898,884,002 - 98,884,188RGD
Cytogenetic Map8q22.2UniSTS
HuRef897,897,842 - 97,898,028UniSTS
GeneMap99-GB4 RH Map8439.42UniSTS
G19929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,699,091 - 102,699,277UniSTSGRCh37
Build 368102,768,267 - 102,768,453RGDNCBI36
Celera898,884,002 - 98,884,188RGD
Cytogenetic Map8q22.2UniSTS
HuRef897,897,842 - 97,898,028UniSTS
AFM345YD9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,930,944 - 102,931,085UniSTSGRCh37
Build 368103,000,120 - 103,000,261RGDNCBI36
Celera899,115,842 - 99,115,983RGD
Cytogenetic Map8q22.2UniSTS
HuRef898,129,527 - 98,129,666UniSTS
RH47462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,699,090 - 102,699,234UniSTSGRCh37
Build 368102,768,266 - 102,768,410RGDNCBI36
Celera898,884,001 - 98,884,145RGD
Cytogenetic Map8q22.2UniSTS
HuRef897,897,841 - 97,897,985UniSTS
GeneMap99-GB4 RH Map8439.92UniSTS
NCBI RH Map81016.3UniSTS
UniSTS:483862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,216,441 - 26,216,872UniSTSGRCh37
Build 36626,324,420 - 26,324,851RGDNCBI36
Celera627,445,744 - 27,446,175RGD
HuRef626,159,441 - 26,159,872UniSTS
L29702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,941,413 - 102,941,975UniSTSGRCh37
Celera899,126,311 - 99,126,873UniSTS
Cytogenetic Map8q22.2UniSTS
HuRef898,139,994 - 98,140,466UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7548
Count of miRNA genes:1144
Interacting mature miRNAs:1444
Transcripts:ENST00000220931, ENST00000311028, ENST00000395923, ENST00000517531, ENST00000517639, ENST00000517822, ENST00000518166, ENST00000518661, ENST00000518727, ENST00000518952, ENST00000519098, ENST00000519508, ENST00000520346, ENST00000520425, ENST00000520690, ENST00000521371, ENST00000521599, ENST00000521957, ENST00000521964, ENST00000522078, ENST00000522206, ENST00000522252, ENST00000522448, ENST00000522754, ENST00000522951, ENST00000523645, ENST00000523923, ENST00000524101, ENST00000524137, ENST00000524209
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1371 1222 291 163 472 26 1575 702 1338 116 424 606 136 414 1094 2
Low 1004 1624 1409 448 1207 423 2756 1454 2355 276 980 911 32 1 790 1690 5
Below cutoff 43 143 22 11 221 14 22 18 30 13 30 57 5 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF251061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM681731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA185335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA211806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA215759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA417037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA776593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA779293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB284042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000220931   ⟹   ENSP00000220931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,686,542 - 101,790,969 (-)Ensembl
RefSeq Acc Id: ENST00000311028   ⟹   ENSP00000310587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,686,543 - 102,124,334 (-)Ensembl
RefSeq Acc Id: ENST00000395923   ⟹   ENSP00000379256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,686,543 - 102,124,907 (-)Ensembl
RefSeq Acc Id: ENST00000517531   ⟹   ENSP00000429245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,315 - 102,123,950 (-)Ensembl
RefSeq Acc Id: ENST00000517639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,915,512 - 102,124,261 (-)Ensembl
RefSeq Acc Id: ENST00000517822   ⟹   ENSP00000428312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,295 - 102,124,263 (-)Ensembl
RefSeq Acc Id: ENST00000518166   ⟹   ENSP00000429522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,280 - 102,124,334 (-)Ensembl
RefSeq Acc Id: ENST00000518661   ⟹   ENSP00000428093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,408 - 102,020,406 (-)Ensembl
RefSeq Acc Id: ENST00000518727   ⟹   ENSP00000430731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,265 - 101,986,492 (-)Ensembl
RefSeq Acc Id: ENST00000518952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,745,825 - 102,124,261 (-)Ensembl
RefSeq Acc Id: ENST00000519098   ⟹   ENSP00000430534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,373 - 101,790,977 (-)Ensembl
RefSeq Acc Id: ENST00000519508   ⟹   ENSP00000430476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,688,105 - 101,719,648 (-)Ensembl
RefSeq Acc Id: ENST00000520346   ⟹   ENSP00000430365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,397 - 101,790,958 (-)Ensembl
RefSeq Acc Id: ENST00000520425   ⟹   ENSP00000430925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,270 - 101,986,606 (-)Ensembl
RefSeq Acc Id: ENST00000520690   ⟹   ENSP00000429255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,692,866 - 101,975,329 (-)Ensembl
RefSeq Acc Id: ENST00000521371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,785,856 - 101,790,969 (-)Ensembl
RefSeq Acc Id: ENST00000521599   ⟹   ENSP00000428105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,687,895 - 102,124,320 (-)Ensembl
RefSeq Acc Id: ENST00000521957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,779,922 - 101,790,977 (-)Ensembl
RefSeq Acc Id: ENST00000521964   ⟹   ENSP00000430064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,369 - 102,124,331 (-)Ensembl
RefSeq Acc Id: ENST00000522078   ⟹   ENSP00000429162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,587 - 102,124,857 (-)Ensembl
RefSeq Acc Id: ENST00000522206   ⟹   ENSP00000429296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,473 - 102,124,814 (-)Ensembl
RefSeq Acc Id: ENST00000522252   ⟹   ENSP00000428598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,293 - 101,790,977 (-)Ensembl
RefSeq Acc Id: ENST00000522448   ⟹   ENSP00000429466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,688,643 - 101,790,969 (-)Ensembl
RefSeq Acc Id: ENST00000522754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,688,478 - 101,694,389 (-)Ensembl
RefSeq Acc Id: ENST00000522951   ⟹   ENSP00000428781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,688,464 - 101,790,977 (-)Ensembl
RefSeq Acc Id: ENST00000523645   ⟹   ENSP00000429347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,621 - 101,790,947 (-)Ensembl
RefSeq Acc Id: ENST00000523923   ⟹   ENSP00000428193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,386 - 102,124,264 (-)Ensembl
RefSeq Acc Id: ENST00000524101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,788,634 - 101,790,934 (-)Ensembl
RefSeq Acc Id: ENST00000524137   ⟹   ENSP00000430578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,583 - 101,788,998 (-)Ensembl
RefSeq Acc Id: ENST00000524209   ⟹   ENSP00000429493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,719,314 - 102,124,261 (-)Ensembl
RefSeq Acc Id: NM_001040624   ⟹   NP_001035714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,686,542 - 102,124,261 (-)NCBI
GRCh378102,698,770 - 103,137,135 (-)ENTREZGENE
Build 368102,767,946 - 103,205,738 (-)NCBI Archive
HuRef897,897,521 - 98,335,560 (-)ENTREZGENE
CHM1_18102,739,049 - 103,176,821 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001040625   ⟹   NP_001035715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,686,542 - 102,124,261 (-)NCBI
GRCh378102,698,770 - 103,137,135 (-)ENTREZGENE
Build 368102,767,946 - 103,205,738 (-)NCBI Archive
HuRef897,897,521 - 98,335,560 (-)ENTREZGENE
CHM1_18102,739,049 - 103,176,821 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001040626   ⟹   NP_001035716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,686,542 - 102,020,289 (-)NCBI
GRCh378102,698,770 - 103,137,135 (-)ENTREZGENE
Build 368102,767,946 - 103,205,738 (-)NCBI Archive
HuRef897,897,521 - 98,335,560 (-)ENTREZGENE
CHM1_18102,739,049 - 103,176,821 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001040627   ⟹   NP_001035717
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,686,542 - 102,020,289 (-)NCBI
GRCh378102,698,770 - 103,137,135 (-)ENTREZGENE
Build 368102,767,946 - 103,205,738 (-)NCBI Archive
HuRef897,897,521 - 98,335,560 (-)ENTREZGENE
CHM1_18102,739,049 - 103,176,821 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001040628   ⟹   NP_001035718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,686,542 - 102,124,261 (-)NCBI
GRCh378102,698,770 - 103,137,135 (-)ENTREZGENE
Build 368102,767,946 - 103,205,738 (-)NCBI Archive
HuRef897,897,521 - 98,335,560 (-)ENTREZGENE
CHM1_18102,739,049 - 103,176,821 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001040629   ⟹   NP_001035719
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,686,542 - 102,020,289 (-)NCBI
GRCh378102,698,770 - 103,137,135 (-)ENTREZGENE
Build 368102,767,946 - 103,205,738 (-)NCBI Archive
HuRef897,897,521 - 98,335,560 (-)ENTREZGENE
CHM1_18102,739,049 - 103,176,821 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001040630   ⟹   NP_001035720
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,686,542 - 102,124,907 (-)NCBI
GRCh378102,698,770 - 103,137,135 (-)ENTREZGENE
Build 368102,767,946 - 103,206,311 (-)NCBI Archive
HuRef897,897,521 - 98,335,560 (-)ENTREZGENE
CHM1_18102,739,049 - 103,177,412 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032041   ⟹   NP_114430
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,686,542 - 101,790,969 (-)NCBI
GRCh378102,698,770 - 103,137,135 (-)ENTREZGENE
Build 368102,767,946 - 102,872,615 (-)NCBI Archive
HuRef897,897,521 - 98,335,560 (-)ENTREZGENE
CHM1_18102,739,049 - 102,843,668 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001035720   ⟸   NM_001040630
- UniProtKB: P61601 (UniProtKB/Swiss-Prot),   B2RB70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035715   ⟸   NM_001040625
- UniProtKB: P61601 (UniProtKB/Swiss-Prot),   B2RB70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035714   ⟸   NM_001040624
- UniProtKB: P61601 (UniProtKB/Swiss-Prot),   B2RB70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035718   ⟸   NM_001040628
- UniProtKB: P61601 (UniProtKB/Swiss-Prot),   B2RB70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035717   ⟸   NM_001040627
- UniProtKB: P61601 (UniProtKB/Swiss-Prot),   B2RB70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035716   ⟸   NM_001040626
- UniProtKB: P61601 (UniProtKB/Swiss-Prot),   B2RB70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035719   ⟸   NM_001040629
- UniProtKB: P61601 (UniProtKB/Swiss-Prot),   B2RB70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_114430   ⟸   NM_032041
- UniProtKB: P61601 (UniProtKB/Swiss-Prot),   B2RB70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429245   ⟸   ENST00000517531
RefSeq Acc Id: ENSP00000428312   ⟸   ENST00000517822
RefSeq Acc Id: ENSP00000430731   ⟸   ENST00000518727
RefSeq Acc Id: ENSP00000429522   ⟸   ENST00000518166
RefSeq Acc Id: ENSP00000428093   ⟸   ENST00000518661
RefSeq Acc Id: ENSP00000430534   ⟸   ENST00000519098
RefSeq Acc Id: ENSP00000430476   ⟸   ENST00000519508
RefSeq Acc Id: ENSP00000430925   ⟸   ENST00000520425
RefSeq Acc Id: ENSP00000430365   ⟸   ENST00000520346
RefSeq Acc Id: ENSP00000429255   ⟸   ENST00000520690
RefSeq Acc Id: ENSP00000310587   ⟸   ENST00000311028
RefSeq Acc Id: ENSP00000428105   ⟸   ENST00000521599
RefSeq Acc Id: ENSP00000430064   ⟸   ENST00000521964
RefSeq Acc Id: ENSP00000429296   ⟸   ENST00000522206
RefSeq Acc Id: ENSP00000428598   ⟸   ENST00000522252
RefSeq Acc Id: ENSP00000429162   ⟸   ENST00000522078
RefSeq Acc Id: ENSP00000429466   ⟸   ENST00000522448
RefSeq Acc Id: ENSP00000428781   ⟸   ENST00000522951
RefSeq Acc Id: ENSP00000428193   ⟸   ENST00000523923
RefSeq Acc Id: ENSP00000429347   ⟸   ENST00000523645
RefSeq Acc Id: ENSP00000220931   ⟸   ENST00000220931
RefSeq Acc Id: ENSP00000429493   ⟸   ENST00000524209
RefSeq Acc Id: ENSP00000430578   ⟸   ENST00000524137
RefSeq Acc Id: ENSP00000379256   ⟸   ENST00000395923
Protein Domains
EF-hand

Promoters
RGD ID:7213915
Promoter ID:EPDNEW_H12703
Type:initiation region
Name:NCALD_1
Description:neurocalcin delta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12704  EPDNEW_H12705  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,790,969 - 101,791,029EPDNEW
RGD ID:7213917
Promoter ID:EPDNEW_H12704
Type:initiation region
Name:NCALD_2
Description:neurocalcin delta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12703  EPDNEW_H12705  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,124,261 - 102,124,321EPDNEW
RGD ID:6806889
Promoter ID:HG_KWN:61830
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_032041
Position:
Human AssemblyChrPosition (strand)Source
Build 368102,872,121 - 102,872,621 (-)MPROMDB
RGD ID:6806638
Promoter ID:HG_KWN:61833
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:ENST00000395919,   NM_001040624,   NM_001040625,   NM_001040626,   NM_001040627,   NM_001040628,   NM_001040629,   NM_001040630
Position:
Human AssemblyChrPosition (strand)Source
Build 368103,205,676 - 103,207,277 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3 copy number gain See cases [RCV000050760] Chr8:101962098..103357772 [GRCh38]
Chr8:102974326..104370000 [GRCh37]
Chr8:103043502..104439176 [NCBI36]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001040624.1(NCALD):c.559C>T (p.Pro187Ser) single nucleotide variant Malignant melanoma [RCV000068058] Chr8:101689332 [GRCh38]
Chr8:102701560 [GRCh37]
Chr8:102770736 [NCBI36]
Chr8:8q22.3
not provided
NM_001040624.1(NCALD):c.-157+6930C>T single nucleotide variant Lung cancer [RCV000106748] Chr8:102013307 [GRCh38]
Chr8:103025535 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103131039-103661336)x3 copy number gain See cases [RCV000447650] Chr8:103131039..103661336 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102590127-104034598)x1 copy number loss See cases [RCV000511503] Chr8:102590127..104034598 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102584167-104236192)x1 copy number loss not provided [RCV000683013] Chr8:102584167..104236192 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7655 AgrOrtholog
COSMIC NCALD COSMIC
Ensembl Genes ENSG00000104490 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000220931 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000310587 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379256 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428093 UniProtKB/TrEMBL
  ENSP00000428105 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428193 UniProtKB/TrEMBL
  ENSP00000428312 UniProtKB/TrEMBL
  ENSP00000428598 UniProtKB/TrEMBL
  ENSP00000428781 UniProtKB/TrEMBL
  ENSP00000429162 UniProtKB/TrEMBL
  ENSP00000429245 UniProtKB/TrEMBL
  ENSP00000429255 UniProtKB/TrEMBL
  ENSP00000429296 UniProtKB/TrEMBL
  ENSP00000429466 UniProtKB/TrEMBL
  ENSP00000429493 UniProtKB/TrEMBL
  ENSP00000429522 UniProtKB/TrEMBL
  ENSP00000430064 UniProtKB/TrEMBL
  ENSP00000430365 UniProtKB/TrEMBL
  ENSP00000430476 UniProtKB/Swiss-Prot
  ENSP00000430534 UniProtKB/TrEMBL
  ENSP00000430578 UniProtKB/TrEMBL
  ENSP00000430731 UniProtKB/TrEMBL
  ENSP00000430925 UniProtKB/TrEMBL
Ensembl Transcript ENST00000220931 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000311028 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395923 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517531 UniProtKB/TrEMBL
  ENST00000517822 UniProtKB/TrEMBL
  ENST00000518166 UniProtKB/TrEMBL
  ENST00000518661 UniProtKB/TrEMBL
  ENST00000518727 UniProtKB/TrEMBL
  ENST00000519098 UniProtKB/TrEMBL
  ENST00000519508 UniProtKB/Swiss-Prot
  ENST00000520346 UniProtKB/TrEMBL
  ENST00000520425 UniProtKB/TrEMBL
  ENST00000520690 UniProtKB/TrEMBL
  ENST00000521599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521964 UniProtKB/TrEMBL
  ENST00000522078 UniProtKB/TrEMBL
  ENST00000522206 UniProtKB/TrEMBL
  ENST00000522252 UniProtKB/TrEMBL
  ENST00000522448 UniProtKB/TrEMBL
  ENST00000522951 UniProtKB/TrEMBL
  ENST00000523923 UniProtKB/TrEMBL
  ENST00000524137 UniProtKB/TrEMBL
  ENST00000524209 UniProtKB/TrEMBL
GTEx ENSG00000104490 GTEx
HGNC ID HGNC:7655 ENTREZGENE
Human Proteome Map NCALD Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Recoverin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83988 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 83988 ENTREZGENE
OMIM 606722 OMIM
PANTHER PTHR23055 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_1 UniProtKB/TrEMBL
  EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_3 UniProtKB/TrEMBL
PharmGKB PA31458 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GXG3_HUMAN UniProtKB/TrEMBL
  B2RB70 ENTREZGENE, UniProtKB/TrEMBL
  E5RFL9_HUMAN UniProtKB/TrEMBL
  E5RGA9_HUMAN UniProtKB/TrEMBL
  E5RGZ0_HUMAN UniProtKB/TrEMBL
  E5RHC8_HUMAN UniProtKB/TrEMBL
  E5RHE8_HUMAN UniProtKB/TrEMBL
  E5RI78_HUMAN UniProtKB/TrEMBL
  E5RI95_HUMAN UniProtKB/TrEMBL
  E5RIA5_HUMAN UniProtKB/TrEMBL
  E5RIG4_HUMAN UniProtKB/TrEMBL
  E5RIX3_HUMAN UniProtKB/TrEMBL
  E5RIZ1_HUMAN UniProtKB/TrEMBL
  E5RJA1_HUMAN UniProtKB/TrEMBL
  E5RJF1_HUMAN UniProtKB/TrEMBL
  E5RJJ6_HUMAN UniProtKB/TrEMBL
  E5RJT1_HUMAN UniProtKB/TrEMBL
  E5RK89_HUMAN UniProtKB/TrEMBL
  NCALD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A0A6YYT2 UniProtKB/TrEMBL
  A0A0K0K1B1 UniProtKB/TrEMBL
  E5RJ38 UniProtKB/TrEMBL
  P29554 UniProtKB/Swiss-Prot
  Q8IYC3 UniProtKB/Swiss-Prot
  Q9H0W2 UniProtKB/Swiss-Prot